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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps
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Accession:DOID:9003529 term browser browse the term
Synonyms:exact_synonym: Autosomal Dominant Familial Hematuria, Retinal Arteriolar Tortuosity, Contractures;   Hanac;   Hanac Syndrome;   Hereditary Angiopathy with Nephropathy, Aneurysm, and Muscle Cramps Syndrome;   Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps Syndrome
 related_synonym: HANAC-LIKE SYNDROME
 primary_id: MESH:C567088
 alt_id: MIM:611773
 xref: GARD:10889;   MONDO:0012726;   ORDO:73229

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Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | ClinVar Annotator: match by term: HANAC-like syndrome ClinVar
OMIM		 PMID:1867713 PMID:3691802 PMID:7695699 PMID:8218237 PMID:9016532 More... NCBI chrNW_004936472:2,416,043...2,543,561
Ensembl chrNW_004936472:2,416,566...2,542,814 		JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936472:2,270,836...2,416,324
Ensembl chrNW_004936472:2,270,819...2,416,349 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps ClinVar PMID:25741868 NCBI chrNW_004936521:4,309,699...4,497,755
Ensembl chrNW_004936521:4,309,694...4,496,904 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14573
    disease of anatomical entity 14277
      musculoskeletal system disease 7572
        muscular disease 2109
          Muscle Cramp 4
            Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps 3
Path 2
Term Annotations click to browse term
  disease 14573
    disease of anatomical entity 14277
      nervous system disease 12529
        peripheral nervous system disease 4030
          neuropathy 3849
            neuromuscular disease 3031
              muscular disease 2109
                Muscle Cramp 4
                  Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps 3
paths to the root